Linked Data
ClinVar Variation Id:
2231439
ClinVar RCV Id:
RCV002708066
dbSNP Id:
rs747945298
ExAC:
10:76788633 G / A
gnomAD v2:
10-76788633-G-A
gnomAD v3:
10-75028875-G-A
gnomAD v4:
10-75028875-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.75028875G>A , CM000672.2:g.75028875G>A | GRCh38 |
| NC_000010.10:g.76788633G>A , CM000672.1:g.76788633G>A | GRCh37 |
| NC_000010.9:g.76458639G>A | NCBI36 |
| NG_032048.1:g.207463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287239.10:c.4051G>A (KAT6B) MANE Select | ENSP00000287239.4:p.Glu1351Lys | |
| ENST00000372711.2:c.3502G>A (KAT6B) | ENSP00000361796.1:p.Glu1168Lys | |
| ENST00000372714.6:c.3175G>A (KAT6B) | ENSP00000361799.1:p.Glu1059Lys | |
| ENST00000372724.6:c.3502G>A (KAT6B) | ENSP00000361809.2:p.Glu1168Lys | |
| ENST00000372725.6:c.3175G>A (KAT6B) | ENSP00000361810.1:p.Glu1059Lys | |
| ENST00000648048.1:c.4051G>A (KAT6B) | ENSP00000497325.1:p.Glu1351Lys | |
| ENST00000648370.1:c.3502G>A (KAT6B) | ENSP00000497804.1:p.Glu1168Lys | |
| ENST00000648725.1:c.4051G>A (KAT6B) | ENSP00000497841.1:p.Glu1351Lys | |
| ENST00000648892.1:c.3175G>A (KAT6B) | ENSP00000497048.1:p.Glu1059Lys | |
| ENST00000649006.1:c.3175G>A (KAT6B) | ENSP00000498139.1:p.Glu1059Lys | |
| ENST00000649463.1:c.4051G>A (KAT6B) | ENSP00000497166.1:p.Glu1351Lys | |
| ENST00000287239.8:c.4051G>A (KAT6B) | ENSP00000287239.4:p.Glu1351Lys | |
| ENST00000372711.1:c.3502G>A (KAT6B) | ENSP00000361796.1:p.Glu1168Lys | |
| ENST00000372714.5:c.3175G>A (KAT6B) | ENSP00000361799.1:p.Glu1059Lys | |
| ENST00000372724.5:c.3175G>A (KAT6B) | ENSP00000361809.1:p.Glu1059Lys | |
| ENST00000372725.5:c.3175G>A (KAT6B) | ENSP00000361810.1:p.Glu1059Lys | |
| NM_001256468.1:c.3502G>A (KAT6B) | NP_001243397.1:p.Glu1168Lys | |
| NM_001256469.1:c.3175G>A (KAT6B) | NP_001243398.1:p.Glu1059Lys | |
| NM_012330.3:c.4051G>A (KAT6B) | NP_036462.2:p.Glu1351Lys | |
| XM_005269664.2:c.4051G>A (KAT6B) | XP_005269721.1:p.Glu1351Lys | |
| XR_946064.1:n.577-2281C>T | ||
| XM_011539747.2:c.*3622-2281C>T (DUSP29) | XP_011538049.1:n.*3622-2281C>T | |
| XM_017016000.2:c.4051G>A (KAT6B) | XP_016871489.1:p.Glu1351Lys | |
| XM_017016002.1:c.4051G>A (KAT6B) | XP_016871491.1:p.Glu1351Lys | |
| XM_017016003.1:c.4051G>A (KAT6B) | XP_016871492.1:p.Glu1351Lys | |
| XM_017016004.2:c.3889G>A (KAT6B) | XP_016871493.1:p.Glu1297Lys | |
| XM_017016005.2:c.3502G>A (KAT6B) | XP_016871494.1:p.Glu1168Lys | |
| XM_017016006.2:c.3175G>A (KAT6B) | XP_016871495.1:p.Glu1059Lys | |
| XM_017016008.2:c.3175G>A (KAT6B) | XP_016871497.1:p.Glu1059Lys | |
| XM_017016009.1:c.3013G>A (KAT6B) | XP_016871498.1:p.Glu1005Lys | |
| NM_012330.4:c.4051G>A (KAT6B) MANE Select | NP_036462.2:p.Glu1351Lys | |
| NM_001370132.1:c.3013G>A (KAT6B) | NP_001357061.1:p.Glu1005Lys | |
| NM_001370133.1:c.2362G>A (KAT6B) | NP_001357062.1:p.Glu788Lys | |
| NM_001370134.1:c.1966G>A (KAT6B) | NP_001357063.1:p.Glu656Lys | |
| NM_001370135.1:c.1708G>A (KAT6B) | NP_001357064.1:p.Glu570Lys | |
| NM_001370136.1:c.4051G>A (KAT6B) | NP_001357065.1:p.Glu1351Lys | |
| NM_001370137.1:c.4051G>A (KAT6B) | NP_001357066.1:p.Glu1351Lys | |
| NM_001370138.1:c.3502G>A (KAT6B) | NP_001357067.1:p.Glu1168Lys | |
| NM_001370139.1:c.3175G>A (KAT6B) | NP_001357068.1:p.Glu1059Lys | |
| NM_001370140.1:c.3175G>A (KAT6B) | NP_001357069.1:p.Glu1059Lys | |
| NM_001370141.1:c.3175G>A (KAT6B) | NP_001357070.1:p.Glu1059Lys | |
| NM_001370142.1:c.3175G>A (KAT6B) | NP_001357071.1:p.Glu1059Lys | |
| NM_001370143.1:c.2986G>A (KAT6B) | NP_001357072.1:p.Glu996Lys | |
| NM_001370144.1:c.2986G>A (KAT6B) | NP_001357073.1:p.Glu996Lys | |
| NM_001256468.2:c.3502G>A (KAT6B) | NP_001243397.1:p.Glu1168Lys | |
| NM_001256469.2:c.3175G>A (KAT6B) | NP_001243398.1:p.Glu1059Lys |